The 22q11.2 duplication syndrome (MIM #608363) is a disorder with varied features. Its phenotype overlaps 22q11.2 deletion syndrome, commonly known as DiGeorge/velocardiofacial syndrome
In this report, we present a patient with confirmed 22q11.2 duplication, occurring at the distal end, spanning 1.4 Mb. This unique patient has features of VACTERL (acronym for vertebral defects, anorectal malformation, cardiac defects, tracheo‐esophageal fistula (TEF), renal anomalies, and limb abnormalities) association (MIM #192350). His specific phenotype includes vertebral anomalies, esophageal atresia (EA) with TEF, ventricular septal defect (VSD), double aortic arch, and limb anomaly. This is the second case, to our knowledge, of VACTERL reported in association with 22q microduplication 6 and the only case to our knowledge that is specifically associated with EA/TEF and a vascular ring.
This report extends the phenotypic spectrum of 22q11.2 duplication syndrome and further supports a predisposition to VACTERL association. The 22q11.2 duplication syndrome (MIM #608363) is a disorder with varied features. Its phenotype overlaps 22q11.2 deletion syndrome, commonly known as DiGeorge/velocardiofacial syndrome (DG/VCFS; MIM #188400, #192430), but it is a separate and distinct syndrome. Manifestations of 22q11.2 duplication syndrome range from normal to mild‐moderate phenotypes. The spectrum includes milder manifestations such as learning disabilities, autism, motor impairment, hypotonia, and dysmorphic features, as well as more severe phenotypes with hearing loss and multiple congenital malformations including congenital heart defects, velopharyngeal insufficiency, cleft lip, and/or cleft palate 1, 2, 3, 4. The size of the duplication does not appear to correlate with a patient’s clinical phenotype 5.
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Abstract
Oesophageal atresia (OA) is a congenital defect associated with additional malformations in 30-70% of the cases. In particular, OA is a component of the VACTERL association. Since some major features of the VACTERL association, including a conotruncal heart defect, radial aplasia, and anal atresia, have been found in patients with microdeletion 22q11.2 (del(22q11.2)), we have screened for del(22q11.2) by fluorescent in situ hybridization (FISH) in 15 syndromic patients with OA. Del(22q11.2) was detected in one of them, presenting with OA, tetralogy of Fallot, anal atresia, neonatal hypocalcemia, and subtle facial anomalies resembling those of velocardiofacial syndrome. The occurrence of del(22q11.2) in our series of patients with OA is low (1/15), but this chromosomal anomaly should be included among causative factors of malformation complexes with OA. In addition, clinical variability of del(22q11.2) syndrome is further corroborated with the inclusion of OA in the list of the findings associated with the deletion.
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